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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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December 2020; 6 (6)

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The Helix

  • Open Access
    The Helix: Editorial Changes
    Stefan M. Pulst
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    Congenital immobility and stiffness related to biallelic ATAD1 variants
    Roxane Bunod, Diane Doummar, Sandra Whalen, Boris Keren, Sandra Chantot-Bastaraud, Kim Maincent, Marie-Charlotte Villy, Michèle Mayer, Diana Rodriguez, Lydie Burglen, Pierre-Louis Léger, François Kieffer, Isabelle Martin, Delphine Héron, Julien Buratti, Arnaud Isapof, Alexandra Afenjar, Thierry Billette de Villemeur, Cyril Mignot
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    Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease
    Young Ho Park, Angela Hodges, Andrew Simmons, Simon Lovestone, Michael W. Weiner, SangYun Kim, Andrew J. Saykin, Kwangsik Nho, For the AddNeuroMed consortium and the Alzheimer's Disease Neuroimaging Initiative
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    Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations
    Vanessa Zanette, Aurelio Reyes, Mark Johnson, Daniel do Valle, Alan J. Robinson, Vaneisse Monteiro, Bruno Augusto Telles, Ricardo L.R. Souza, Mara L S.F. Santos, Cristiane Benincá, Massimo Zeviani
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    POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy
    Hitoshi Kashiki, Heng Li, Sachiko Miyamoto, Hiroe Ueno, Yoshinori Tsurusaki, Chizuru Ikeda, Hirofumi Kurata, Takumi Okada, Tomoyuki Shimazu, Hoseki Imamura, Yumi Enomoto, Jun-ichi Takanashi, Kenji Kurosawa, Hirotomo Saitsu, Ken Inoue
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    Biotinidase deficiencyA treatable cause of hereditary spastic paraparesis
    Florentine Radelfahr, Korbinian M. Riedhammer, Leonie F. Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner
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    Primary mitochondrial myopathyClinical features and outcome measures in 118 cases from Italy
    Vincenzo Montano, Francesco Gruosso, Valerio Carelli, Giacomo Pietro Comi, Massimiliano Filosto, Costanza Lamperti, Tiziana Mongini, Olimpia Musumeci, Serenella Servidei, Paola Tonin, Antonio Toscano, Angela Modenese, Guido Primiano, Maria Lucia Valentino, Sara Bortolani, Silvia Marchet, Megi Meneri, Graziana Tavilla, Gabriele Siciliano, Michelangelo Mancuso
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    Heterozygous variants in DCCBeyond congenital mirror movements
    Sebastian Thams, Mominul Islam, Marie Lindefeldt, Ann Nordgren, Tobias Granberg, Bianca Tesi, Gisela Barbany, Daniel Nilsson, Martin Paucar
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    The SPID-GBA studySex distribution, Penetrance, Incidence, and Dementia in GBA-PD
    Letizia Straniero, Rosanna Asselta, Salvatore Bonvegna, Valeria Rimoldi, Giada Melistaccio, Giulia Soldà, Massimo Aureli, Matteo Della Porta, Ugo Lucca, Alessio Di Fonzo, Anna Zecchinelli, Gianni Pezzoli, Roberto Cilia, Stefano Duga
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    Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
    Ivon Cuscó, Sara Bernal, Laura Blasco-Pérez, Maite Calucho, Laura Alias, Pablo Fuentes-Prior, Eduardo F. Tizzano
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    Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
    Federica Malerba, Giulio Alberini, Ganna Balagura, Francesca Marchese, Elisabetta Amadori, Antonella Riva, Maria Stella Vari, Elena Gennaro, Francesca Madia, Vincenzo Salpietro, Marco Angriman, Lucio Giordano, Patrizia Accorsi, Marina Trivisano, Nicola Specchio, Angelo Russo, Giuseppe Gobbi, Federico Raviglione, Tiziana Pisano, Carla Marini, Maria M. Mancardi, Lino Nobili, Elena Freri, Barbara Castellotti, Giuseppe Capovilla, Antonietta Coppola, Alberto Verrotti, Paola Martelli, Francesco Miceli, Luca Maragliano, Fabio Benfenati, Maria R. Cilio, Kathrine M. Johannesen, Rikke S. Møller, Berten Ceulemans, Carlo Minetti, Sarah Weckhuysen, Federico Zara, Maurizio Taglialatela, Pasquale Striano
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    New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
    Stéphanie Bauché, Alain Sureau, Damien Sternberg, John Rendu, Céline Buon, Julien Messéant, Myriam Boëx, Denis Furling, Julien Fauré, Xénia Latypova, Antoinette Bernabe Gelot, Michèle Mayer, Pierre Mary, Sandra Whalen, Emmanuel Fournier, Isabelle Cloix, Ganaelle Remerand, Fanny Laffargue, Marie-Christine Nougues, Bertrand Fontaine, Bruno Eymard, Arnaud Isapof, Laure Strochlic
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Clinical/Scientific Notes

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    Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6
    Takashi Odo, Tomoko Okamoto, Noriko Sato, Yuji Takahashi
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    Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant
    Yuji Sugawara, Tomoko Mizuno, Kengo Moriyama, Hisako Ishiwata, Mitsuhiro Kato, Mitsuko Nakashima, Takeshi Mizuguchi, Naomichi Matsumoto
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    Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy
    Tasuku Ishihara, Tomoko Okamoto, Ken Saida, Yuji Saitoh, Shinji Oda, Terunori Sano, Takuhiro Yoshida, Yuki Morita, Atsushi Fujita, Hiromi Fukuda, Noriko Miyake, Takeshi Mizuguchi, Yuko Saito, Yoshiki Sekijima, Naomichi Matsumoto, Yuji Takahashi
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    Ketogenic diet reduces Lafora bodies in murine Lafora disease
    Lori Israelian, Peixiang Wang, Shoghig Gabrielian, Xiaochu Zhao, Berge A. Minassian
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    Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation
    Timo Hautala, Jie Chen, Laura Tervonen, Terhi Partanen, Satu Winqvist, Johanna Lehtonen, Janna Saarela, Minna Kraatari, Outi Kuismin, Tytti Vuorinen, Virpi Glumoff, Pirjo Åström, Usko Huuskonen, Lazaro Lorenzo, Jean-Laurent Casanova, Shen-Ying Zhang, Mikko R.J. Seppänen
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